What are aneuploidies? What diseases are detected with the PGT-A test? Is it necessary to start a fertility treatment to perform the test?
What are Aneuploidies?
Healthy human embryos (euploid) have 23 pairs of chromosomes.
In certain cases, alterations in the egg, the sperm or the embryo itself can result in embryos with an incorrect number of chromosomes: these abnormalities are called aneuploidy.
Most chromosomal abnormalities lead to miscarriages and the rest are associated with genetic diseases (such as Down’s Syndrome).
What does PGT-A consist of?
PGT-A, or Preimplantational Genetic Test for the detection of Aneuploidy, is a technique that allows the embryo to be genetically analysed in the laboratory before implantation. It allows chromosomal alterations in the embryos to be detected in order to avoid embryo transfers that will not give rise to a healthy baby.
Between the 5th and 6th day of embryo development, a small portion of cells is removed from the embryo (known as an embryo biopsy). On the same day, the biopsied embryo is vitrified until the PGT-A results are available.
It takes about 10 days for the laboratory to obtain the results, but thanks to this short wait, the chances of successful treatment are multiplied.
Which diseases can PGT-A detect?
PGT-A allows the detection of diseases that are related to the alteration of the normal number of chromosomes. Thus, this test identifies the presence of Down syndrome, Edwards’ syndrome, Patau’s syndrome, Klinefelter’s syndrome and Turner’s syndrome, among others.
When is a genetic test such as PGT-A recommended?
In order to perform this test, it is essential that the patient is undergoing in vitro fertilisation treatment.
The percentage of patients who undergo PGT-A is quite high in treatments with their own eggs in women over 40 years of age. With age, the percentage of aneuploidies increases exponentially, which is why it is very useful to have an A-PGT.
This technique is also indicated for cases in which there have been repeated miscarriages, or recurrent implantation failures after IVF due to the possibility of having a gamete condition that could cause embryo problems.
Is this test safe?
Preimplantation Genetic Testing for the detection of aneuploidy is becoming more and more usual and, for our embryologist specialists, it is something common in the laboratory.
PGT-A offers the highest reliability of results among genetic tests. It is the best alternative to ensure that your baby is born healthy and free of genetic diseases.
If you have any further questions regarding this technique, please do not hesitate to contact one of our specialists, who will be pleased to answer your questions.
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